Fabry disease and incidence of cancer

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma...

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Autores principales: Bird, Sarah, Hadjimichael, Efthymios, Mehta, Atul, Ramaswami, Uma, Hughes, Derralynn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588622/
https://www.ncbi.nlm.nih.gov/pubmed/28877708
http://dx.doi.org/10.1186/s13023-017-0701-6
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author Bird, Sarah
Hadjimichael, Efthymios
Mehta, Atul
Ramaswami, Uma
Hughes, Derralynn
author_facet Bird, Sarah
Hadjimichael, Efthymios
Mehta, Atul
Ramaswami, Uma
Hughes, Derralynn
author_sort Bird, Sarah
collection PubMed
description BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population. RESULTS: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas. CONCLUSION: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population.
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spelling pubmed-55886222017-09-14 Fabry disease and incidence of cancer Bird, Sarah Hadjimichael, Efthymios Mehta, Atul Ramaswami, Uma Hughes, Derralynn Orphanet J Rare Dis Research BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population. RESULTS: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas. CONCLUSION: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population. BioMed Central 2017-09-06 /pmc/articles/PMC5588622/ /pubmed/28877708 http://dx.doi.org/10.1186/s13023-017-0701-6 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Bird, Sarah
Hadjimichael, Efthymios
Mehta, Atul
Ramaswami, Uma
Hughes, Derralynn
Fabry disease and incidence of cancer
title Fabry disease and incidence of cancer
title_full Fabry disease and incidence of cancer
title_fullStr Fabry disease and incidence of cancer
title_full_unstemmed Fabry disease and incidence of cancer
title_short Fabry disease and incidence of cancer
title_sort fabry disease and incidence of cancer
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588622/
https://www.ncbi.nlm.nih.gov/pubmed/28877708
http://dx.doi.org/10.1186/s13023-017-0701-6
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